Newborn babies are being tested for rare genetic disorders on the NHS for the first time in the biggest ever study of its kind.
Doctors hope the simple blood test, which looks for genetic faults in DNA, will speed up diagnosis and treatment for thousands of babies born every year.
The project marks the first time that whole genome sequencing (WGS) has been offered to healthy babies on the NHS.
It will screen for around 200 treatable disorders often before symptoms begin, allowing treatment to start sooner and potentially preventing longer-term health problems.
More than 500 blood samples have been taken from newborns as part of the study at 13 NHS hospitals across the country, with plans to scale up to around 40 sites.
Some 100,000 babies will be screened using samples from their umbilical cords taken shortly after birth
Doctors hope the simple blood test, which looks for genetic faults in DNA, will speed up diagnosis and treatment for thousands of babies born every year (file image)
Researchers will explore the potential of storing an individual genome over a person’s lifetime and using it to help predict, diagnose and treat future illnesses (file image)
Amanda Pritchard, NHS chief executive, said: ‘Diagnosing rare conditions in newborn babies at the earliest opportunity through genomic testing could be truly life-changing for families.
‘It has the potential to give thousands of children the chance to access the right treatment at the right time, giving them the best possible start to life, and for families to better plan for their care.’
Some 100,000 babies will be screened using samples from their umbilical cords taken shortly after birth.
Expectant parents will asked if they want to take part in the ‘Generation study’ during pregnancy.
If a condition is identified, the baby would undergo further tests to confirm the diagnosis before receiving treatment.
It is hoped earlier diagnosis would also spare parents from months or even years of anguish, in not knowing what is wrong with their child.
Dr Rich Scott, Chief Executive Officer at Genomics England, said: ‘The launch of the Generation Study is a pivotal moment as we look to develop evidence on whether genomic newborn screening should be offered to all children – to do more for the thousands of children born every year in the UK with a treatable genetic condition.
‘Children with these conditions often go years without receiving a diagnosis. Cutting this time would mean earlier access to what can be life-changing treatment.’
The data could also be used to support broader healthcare research aimed at improving testing and discover more treatments.
At the end of the trial, policymakers will decide if whole genome sequencing should be rolled out as part of a future newborn screening programme (file image)
The data could also be used to support broader healthcare research aimed at improving testing and discover more treatments (file image)
Researchers will explore the potential of storing an individual genome over a person’s lifetime and using it to help predict, diagnose and treat future illnesses.
For example, if a child who has had their genome sequenced falls sick when they are older, there may be an opportunity to use their stored genetic information to help diagnose and treat them.
Critics have voiced concerns over the potential medical implications for parents and their extended family as well as the potential to flag non-paternity, with some worried it could see people opt out of screening altogether.
At the end of the trial, policymakers will decide if whole genome sequencing should be rolled out as part of a future newborn screening programme.
Dame Sue Hill, Chief Scientific Officer for England, said: ‘By studying the potential of using whole genome sequencing from birth, we can find out whether delivering early treatments for rare genetic conditions could transform a young patient’s care and whether there are longer term benefits of having a whole genome sequence from birth.’
